Abstract: Objective To investigate the clinical features and risk factors for severe tsutsugamushi disease, so as to provide reference for diagnosis and differentiation of severe tsutsugamushi disease as soon as possible. Methods The clinical data of 178 cases of inpatients with tsutsugamushi disease admitted to the Guangzhou Eighth People's Hospital, Guangzhou Medical University from January 2016 to September 2021 were collected and analyzed according to their gender, age, underlying diseases, clinical characteristics at admission, laboratory examination results within 24 hours of admission and epidemiological history. The patients were divided into the severe group and the non-severe group according to the diagnostic criteria. The data of clinical characteristics, laboratory examination and prognosis of the two groups were compared. Multivariate logistic regression analysis was performed on the variables with statistical significance and the receiver operating characteristic curve (ROC) was drawn. Results A total of 178 patients were included in this study, with 37 in the severe group and 141 in the non-severe group. Compared with the non-severe group, the age of the severe group was older, the underlying diseases were more, the incidence of dyspnea and the levels of white blood cell, total bilirubin, aspartate aminotransferase, lactate dehydrogenase, cystatin C, uric acid and serum creatinine were significantly increased, the levels of platelet and albumin were significantly decreased (all P<0.05). The dyspnea [odds ratio (OR value)=8.93, 95% confidence interval (CI): 1.200-66.424; P=0.032], total bilirubin (OR=1.091, 95%CI: 1.028-1.159; P=0.004) and serum creatinine (OR=1.052, 95%CI: 1.004-1.102; P=0.033) were independent risk factors for severe tsutsugamushi disease. The area under ROC curve of total bilirubin and serum creatinine were 0.777 and 0.764, respectively (both P<0.01), indicating high predictive value for severe tsutsugamushi disease. The optimal cut-off value for total bilirubin was 23.01 µmol/L, with a sensitivity of 54.10% and a specificity of 90.60%; the optimal cut-off value for creatinine was 126.45 µmol/L, with a sensitivity of 43.20% and a specificity of 100.00%. The case fatality rate of severe tsutsugamushi disease was 2.70%. Conclusions The patients with severe tsutsugamushi disease are older, and have more underlying diseases. Dyspnea, increased total bilirubin and elevated serum creatinine are independent risk factors for severe tsutsugamushi disease, which can help in the early identification of severe tsutsugamushi disease early.

This paper reports the clinical characteristics and ZNF526 gene mutation in a child with Dentici-Novelli neurodevelopmental syndrome, who was admitted to the Department of Pediatrics at the First Affiliated Hospital of Henan University of Traditional Chinese Medicine in June 2021, and reviews the relevant literature.The male child, 5 years and 1 month old, presented with distinctive facial features, intellectual and motor retardation, language development delays, scattered Mongolian spots on the back and buttocks, brain tissue involvement, visual impairment, and epilepsy.The whole-exome sequencing of the family revealed that the child suffered compound heterozygous mutations, c.1430G>T and c. 475C>T, in the ZNF526 gene.At present, 7 mutation sites in the ZNF526 gene have been reported globally to be associated with neurodevelopmental disorders, and the 2 mutations in this case have not been reported in the literature, broadening the phenotype and mutation spectrum of this disease.

Objective:To explore the clinical characteristics of imported malaria from Africa, and the correlation between blood lipids and disease severity.Methods:The clinical data of 172 imported malaria patients from Africa were collected from January 1, 2018 to January 31, 2021 in Guangzhou Eighth People′s Hospital, Guangzhou Medical University. The general conditions, clinical symptoms, laboratory tests, treatment and prognosis of the patients were analyzed retrospectively. The independent samples t-test, Mann-Whitney U test and binary multivariate logistic regression analysis were used for statistical analysis when appropriate. Results:A total of 172 patients were divided into 39 severe cases and 133 non-severe cases in this study. The main infection species was Plasmodium falciparum, with a total of 153 cases (89.0%), and the severe cases were all falciparum malarias. Compared with the non-severe group, the white blood cell count and triacylglycerol level were increased in the severe group.The differences were both statistically significant ( Z=2.397 and 4.368, respectively; both P<0.05). The hemoglobin, hematocrit, platelet count, high-density lipoprotein cholesterol, apolipoprotein A (ApoA)Ⅰ and ApoAⅠ/apolipoprotein B (ApoB) were significantly decreased in the severe group. The differences were all statistically significant ( Z=-4.473, -4.464, -4.750, -4.826, -5.488 and -4.419, respectively; all P<0.01). The total cholesterol and low-density lipoprotein cholesterol were also reduced in the severe group. The differences were both statistically significant ( t=3.817 and 5.285, respectively; both P<0.01). The area under receiver operator characteristic curve of high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triacylglycerol, ApoAⅠ, and ApoAⅠ/ApoB were 0.754, 0.727, 0.730, 0.789 and 0.733, respectively (all P<0.01). When the Youden index was at its maximum, the best cut-off value of ApoAⅠ was 0.535 g/L with sensitivity of the prediction for severe malaria of 79.5% and the specificity of 68.4%. ApoAⅠ had independent predictive value for severe malaria (odds ratio ( OR)=0.013, 95% confidence interval ( CI) 0.002 to 0.086, P<0.01), and stratified according to the best cut-off value, the risk of severe malaria when ApoA Ⅰ<0.535 g/L was 8.396 times of ApoA Ⅰ≥0.535 g/L ( OR=8.396, 95% CI 3.557 to 19.820, P<0.01). The case fatality rate of severe malaria was 2.6%(1/39). Conclusions:The imported malaria patients from Africa are mainly infected with Plasmodium falciparum and the case fatality rate of severe malaria is high. The high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triacylglycerol, ApoAⅠ, ApoAⅠ/ApoB of blood lipids show higher predictive value for severe malaria, among which, ApoAⅠ has independent predictive value for severe malaria. Changes in blood lipids will help to identify severe malaria as early as possible, improve the cure rate, and reduce the risk of death.

Objective:To analyze the epidemiological and clinical characteristics of patients with tsutsugamushi disease in Guangdong Province from 2016 to 2021, and to provide a reference for clinical diagnosis, treatment, scientific prevention and control of tsutsugamushi disease.Methods:A retrospective analysis was conducted to collect the information of patients with tsutsugamushi disease admitted to Guangzhou Eighth Hospital Affiliated to Guangzhou Medical University from 2016 to 2021, including the basic information, epidemiological characteristics, clinical manifestations, auxiliary examinations, complications, misdiagnosis at first diagnosis and treatment outcomes.Results:Among 155 patients with tsutsugamushi disease, there were 75 males (48.39%) and 80 females (51.61%), with an e age of (54.41 ± 13.78) years old, and 30 cases (19.35%) had other underlying diseases. The peak time of onset was from June to September. There were 97 local patients (62.58%) in Guangzhou, and 58 cases (37.42%) in other prefecture-level cities; 76.77% (119/155) had a history of field activities before the onset of the disease. 36.13% (56/155) were farmers. The most common clinical manifestations were fever (100.00%, 155/155), chills and/or shivering (77.42%, 120/155), headache and/or dizziness (74.19%, 115/155), fatigue (65.81%, 102/155), eschar or ulcer (92.90%, 144/155), and lymphadenopathy (49.68%, 77/155). The laboratory test results mainly showed a decrease in eosinophils (81.94%, 127/155), a decrease in hematocrit (78.71%, 122/155), a decrease in hemoglobin (52.26%, 81/155), a decrease in platelet count (50.97%, 79/155), a decrease in albumin (92.26%, 143/155), an increase in lactate dehydrogenase (90.32%, 140/155), an increase in adenosine deaminase (88.39%, 137/155), and an increase in alanine aminotransferase (85.16%, 132/155), elevated aspartate aminotransferase (85.16%, 132/155), and elevated procalcitonin (52.90%, 82/155); 30 cases (19.35%) were positive for the Weil-Felix Test. There were 95 cases (61.29%) with abnormal chest imaging results, and 34 cases (21.94%) with abnormal abdominal ultrasound or CT results. Common complications were toxic hepatitis, pulmonary infection, organ failure, and acute kidney injury, etc. The misdiagnosis rate of the initial diagnosis of this disease was 75.48% (117/155). Doxycycline and symptomatic and supportive therapy were given, 154 patients (99.35%) were cured or improved and discharged from hospital.Conclusions:Tsutsugamushi disease is prevalent in summer and autumn in Guangdong Province. Before the onset, most of the patients have a history of field activities. Farmers are susceptible people. Its clinical manifestations are diverse, and can affect multiple systems and organs. There are many complications, and doxycycline can be used for anti-infection treatment, with a high cure rate.